This lesson will increase your knowledge of concepts

covered in the following TEKS for biology:

3.c Evaluate impact of research on scientific thought, society, and the
environment
3.e Evaluate models according to their adequacy in representing biological
objects or events
6.c Identify and illustrate how changes in DNA cause mutations and evaluate
the significance of these changes
6.e Compare the processes of mitosis and meiosis and their significance to
sexual and asexual reproduction

Previous Lesson

Individuality and
Cloning

Question: What is the

difference between mitosis
and meiosis?

Mitosis is a process producing

body cells whereas meiosis is a
process producing gametes
Daughter cells produced by
mitosis are 2n (diploid) whereas
daughter cells produced by
meiosis are n (haploid)

Question: From a scientific standpoint,

what is the significance of Dolly?

Dolly showed cloning of mammals

was possible
Scientists can take DNA from an
adult cell and re-start the reading of
the DNA, as if it was DNA in a
fertilized egg
DNA can then direct the synthesis of
proteins to produce an embryo and
eventually a clone of the adult

Question: From a
chromosomal standpoint,
what is wrong with the idea of
using a sperm and an egg
from super athletes to try to
have a super athlete child?

Random assortment of chromosomes causes the sperm

and egg to have different chromosome combinations

Meiosis I

Meiosis II

Fig. 23.6
Based on: Mader, S., Inquiry Into Life, McGraw-Hill

The child may not get the

athletic chromosomes
The chromosomes can line up
223 or 10 million different ways in
meiosis I
Each person can produce 10
million different types of
gametes

Question: Why not try to clone

the super athlete?

Cloning of Humans
Cloning results in higher rates of
miscarriage and deathusing todays
technology
Although the clone would be
genetically identical, the environment
that produced the super athlete would
be differentsame nature, different
nurture

Todays Lesson

Genetic Disorders and

Gene Therapy

Overview of Lesson
Genetic diseases
Chromosomal
Single gene

Genetic Testing
Gene Therapy

Chromosomal Diseases
Gametes have abnormal
chromosome numbers and
mutations
Offspring inherit extra chromosome
or are missing a chromosome
Caused by problems with meiosis

Nondisjunction of chromosomes during meiosis

Based on: Brooks/Cole Thomson Learning

Characteristics of a child with

Down Syndrome
-wide, rounded face
-mentally retarded
-enlarged tongue

Normal female
karyotype with 46
chromosomes
Based on: Mader, S., Inquiry Into Life, McGraw-Hill

-equal length fingers

-webbed neck

Down syndrome
karyotype with an
extra chromosome 21

Amniocentesis

Used on pregnant women over 35 years of age

Performed during weeks 15-17 of pregnancy
A needle is inserted into the amniotic sac
Amniotic fluid with fetal cells is removed
A karyotype of the fetal chromosomes is prepared

Risk of Having Child with Down

Syndrome versus Risk of Miscarriage
due to Amniocentesis

Risk of Down Syndrome

Risk of Miscarriage

Overview of Lesson
Genetic diseases
Chromosomal
Single gene

Genetic Testing
Gene Therapy

Important Points about Inheritance

Genes have different forms, called
alleles
Each trait is controlled by effects of
two alleles
Some alleles are dominant/recessive
and other alleles are co-dominant

Allele for Widows Peak

is dominant
A person with WW or Ww
will have Widows Peak

Allele for Straight Hairline

is recessive
A person with ww will have
a Straight Hairline
http://images.google.com/

Genotype vs. Phenotype

Genotype refers to the alleles
Phenotype refers to the appearance
Example: Genotype - Phenotype
WW - person has a widows peak
Ww - person has a widows peak
ww - person has a straight hair line

Genetics Problem
A woman (Ww) with a widows
peak has children with a man
(ww) with a straight hairline
What is the chance that the child
will have a widows peak?

Alleles
W = Widows peak
w = Straight

Genotypes-Phenotypes
WW - Widows peak
Ww - Widows peak
ww - Straight

Female
Ww
eggs

Ww

ww

Ww

ww

Male
ww

Offspring

sperm

Each child would

have a 50%
chance of having
a widows peak

Question: Why would a person

with a genotype of Ww,
produce gametes with W and
gametes with w?
Gametes

Huntington Disease
Person gradually loses
psychomotor control in
adulthood
Caused by dominant
allele

Genetics Problem
A woman (hh) with normal
nerve physiology has a child
with a man (Hh) who will
develop Huntington Disease
What is the chance that the
child will have Huntington
Disease?

Alleles
H = Huntington
h = Normal

Genotypes-Phenotypes
HH - Huntington
Hh - Huntington
hh - normal

Female
hh
eggs

Male
Hh

Offspring

sperm

Each child would

have a __%
chance of having
Huntington
Disease

Alleles
H = Huntington
h = Normal

Genotypes-Phenotypes
HH - Huntington
Hh - Huntington
hh - normal

Female
hh
eggs

Male
Hh

Hh

Hh

hh

hh

Offspring

sperm

Each child would

have a 50%
chance of having
Huntington
Disease

Cystic Fibrosis
Mucus in bronchi is thick,
interfering with lung function
Caused by a recessive allele

Genetics Problem
A woman (Nn) with normal lung
physiology has a child with a
man (Nn) who has normal lung
physiology
(both are carriers of allele)
What is the chance that the child
will have Cystic Fibrosis?

Alleles
N = Normal
n = Cystic Fibrosis

Genotypes-Phenotypes
NN - Normal
Nn - Normal
nn - Cystic Fibrosis

Female
Nn
eggs

Male
Nn

Offspring

sperm

Each child would

have a __%
chance of having
Cystic Fibrosis

Alleles
N = Normal
n = Cystic Fibrosis

Genotypes-Phenotypes
NN - Normal
Nn - Normal
nn - Cystic Fibrosis

Female
Nn
eggs

NN

Nn

Nn

nn

Male
Nn

Offspring

sperm

Each child would

have a 25%
chance of having
Cystic Fibrosis

Sickle Cell Disease- recessive allele

Red blood cells are sickle shaped, issues with circulation
causing anemia and pain

Based on: Harvard Family Health Guide, 1999

Genetics Problem
A woman (Nn) with sickle
cell trait has a child with
a man (NN) who has
normal red cells.
What is the chance that
the child will have Sickle
Cell Trait?

Alleles
N = Normal
n = Sickle Cell

Genotypes-Phenotypes
NN - Normal
Nn - Sickle Cell Trait
nn - Sickle Cell Anemia

Female
Nn
eggs

Male
NN

Offspring

sperm

Each child would

have a __%
chance of having
Sickle Cell Trait

Alleles
N = Normal
n = Sickle Cell

Genotypes-Phenotypes
NN - Normal
Nn - Sickle Cell Trait
nn - Sickle Cell Anemia

Female
Nn
eggs

NN

Nn

NN

Nn

Male
NN

Offspring

sperm

Each child would

have a 50%
chance of having
Sickle Cell trait

Overview of Lesson
Genetic diseases
Chromosomal
Single gene

Genetic Testing
Gene Therapy

Genetics & Human Diseases

About 4,000 human diseases are thought to be
inherited
Scientists are making good progress figuring out
where genes are located on chromosomes and in
understanding how the mutations in genes cause
disease

Genetic map of
chromosome 17

Based on: Mader, S., Inquiry Into Life, McGraw-Hill

Genetic Testing
Now have DNA tests for 30 - 40
diseases
Cystic fibrosis, some forms of
breast cancer, fragile X syndrome,
Huntington disease, Duchenne
muscular dystrophy
Tests are up to 99% accurate
Tests can be run on embryos
created by in-vitro fertilization prior
to implantation

Future of Genetic Testing

When will we have tests for 1000s of genetic diseases in
human or what project must be completed for scientists
to understand the DNA-protein relationships that cause
many human diseases?

Answer

Issues about Genetic Testing

What if the news is bad? Should the fetus be aborted
or allowed to live with a cruel disease?
Should insurance coverage provide care for a child
having a genetic disease that was diagnosed before
birth?
Should blood relatives be warned?
Should our genetics be part of our records?
Should employers be allowed to consider genetically
based diseases in hiring employees?
Will eugenics (manipulation of the hereditary qualities
of a race) be practiced?

Overview of Lesson
Genetic diseases
Chromosomal
Single gene

Genetic Testing
Gene Therapy

Gene Therapy
Gene therapy is lagging behind genetic testing
For example, gene for cystic fibrosis was identified
in 1989
Scientists have been testing ways to insert copies
of the normal gene into cells of the respiratory tract

It is difficult to get the gene inserted into the

tissue so that it can take over control of protein
synthesis

Steps in Gene Therapy In Utero

Approved gene-therapy trials

Map shows 2004 Stats

In 2008 938
clinical trials for
gene therapy
ongoing in USA
In 2008 56 new
trials were
approved in USA

Gene therapy trials are now underway around

the world. When will the results be considered
part of world knowledge?

Next Class

Exam I
(Lessons & Labs)

Genetic tests for 1000s of genetic

diseases will be available after the
Proteome Project is completedor
after scientists figure out which
proteins go with which genes
probably in 10-20 years.
Back

Scientific Methodology
Observation

World knowledge in scientific journals

Hypotheses

Publication

Rejection

Tests of hypotheses

Peer review

Results

Submission of paper to scientific

journal

Back

Meiosis - formation of gametes in gonads

Back

Based on: Mader, S., Inquiry Into Life, McGraw-Hill